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In 1993, Kevin Strauss, MD, in search of advice on where he should go to medical school, found himself driving up a dirt road in rural southeastern Pennsylvania. “In the middle of a cornfield sat a timber-framed building,” he recalls.
The building was the Clinic for Special Children in Strasburg, PA. Dr. Strauss was there to meet the clinic's co-founder, D. Holmes Morton, MD. He could not have imagined that eight years later, fresh out of a pediatrics residency program in Boston, he would return to the clinic to work with Dr. Morton as a staff pediatrician, still less that in 2009 he would succeed Dr. Morton as the clinic's medical director.
Since its founding in 1989, the independent nonprofit Clinic for Special Children has evolved into a unique combination of a pediatric primary care clinic for the medically underserved Amish and Mennonite communities of southeastern Pennsylvania and a center for cutting-edge diagnosis and research for rare genetic conditions. The clinic's on-site diagnostic laboratory identifies between five and 15 new genetic diseases every year.
The Clinic has a longstanding collaborative relationship with Children’s Hospital of Pittsburgh of UPMC that began when a clinic patient with a rare liver disease needed a liver transplant. Children’s offers unique expertise in pediatric liver transplantation, having performed more pediatric liver transplants than any other center in the United States. In 2004, in collaboration with the Clinic, Children’s became the world’s first hospital to establish an elective liver transplantation protocol for patients with maple syrup urine disease (MSUD). Since then, more than 55 children with MSUD have received liver transplants at Children’s.
“People often ask me why a small nonprofit clinic like ours, serving an underserved rural community, would partner with Children’s Hospital,” says Dr. Strauss. “The answer is that we share core principles about patient care¬—principles that are embodied in the Center for Rare Disease Therapy. The Center believes, as we at the Clinic do, that children with rare diseases deserve the best medical care, and it is committed to making its services accessible to children who might not otherwise have access to them. Furthermore, the Center is committed to scientific innovation, which is very close to our hearts at the clinic.”
For Dr. Strauss, the clinic's unique mission is summed up in the story of a four-year-old boy whom he first saw in 2002. The boy's neurological development had stalled early in life; he suffered from seizures, stunted growth, stiff muscles, and infections. He was unable to focus his eyes or respond to sounds. His parents had taken him to a university-affiliated children's hospital for a battery of costly, sophisticated tests that had failed to produce a diagnosis.
Within a week, the clinic had not only diagnosed the boy with a rare genetic disorder known as MTHFR deficiency but also identified several other children with the same condition in the small Amish community in which the family lived. In MTHFR deficiency, the body lacks an enzyme crucial for the production of an amino acid, methionine, that is indispensable for the growth of the brain and other body tissues. The condition could be prevented if identified at birth and if treatment began immediately with an inexpensive, safe, over-the-counter nutritional supplement.
Dr. Strauss and other clinic staff worked to develop and implement an effective newborn screening test for MTHFR deficiency that was targeted to this high-risk community. The first patient to be picked up through this screening program was the sister of the boy Dr. Strauss had first seen. “We started her on therapy when she was less than two weeks old,” he says. “She is now 12 years old and completely healthy.”
With 26 years of history and over 170 diseases to date, Dr. Strauss and the Clinic for Special Children’s team are committed to serving the most vulnerable children among us in partnership with Children’s Center for Rare Disease Therapy.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
Children’s Hospital of Pittsburgh of UPMC
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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